#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_Description	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Region	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_GERP_NR	i_dbNSFP_GERP_RS	i_dbNSFP_GERP_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
LILRA1	11024	broad.mit.edu	37	19	55106755	55106755	+	Silent	SNP	T	T	C			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr19:55106755T>C	ENST00000251372.3	+	5	731	c.549T>C	c.(547-549)tcT>tcC	p.S183S	LILRA1_ENST00000453777.1_Silent_p.S183S|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	183	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.S183S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCATCTTCTCTGTGGGCCCCG	0.567																																						ENST00000453777.1											1	Substitution - coding silent(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(547-549)tcT>tcC	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1						155.0	158.0	157.0					19																	55106755		2203	4300	6503	SO:0001819	synonymous_variant	11024			cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106755T>C	AF025530	AF025530	CCDS12901.1, CCDS62802.1	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			2013-01-11			ENSG00000104974	ENSG00000104974	ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	6602	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604810	604810						9548455	9548455	Standard	Standard	NM_006863	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	uc002qgh.2	O75019	O75019	OTTHUMG00000065701	OTTHUMG00000065701	ENST00000251372.3:c.549T>C	19.37:g.55106755T>C			LILRA1_ENST00000251372.3_Silent_p.S183S|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron	p.S183S	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	5	719	+			183	Ig-like C2-type 2.	O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.549T>C	CCDS12901.1																																																																																									0.567	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2		-32.428414	70	70	196	196	NM_006863		4	7.305566	7.305566	155	0.025157	0	0	0	1	0	4	155	0.025157
DNAJC1	64215	broad.mit.edu	37	10	22055195	22055195	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr10:22055195G>C	ENST00000376980.3	-	10	1432	c.1142C>G	c.(1141-1143)tCc>tGc	p.S381C	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	381					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CTCACCTGGGGAGCAGGTCAC	0.353																																						ENST00000376980.3											0			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1141-1143)tCc>tGc	DnaJ (Hsp40) homolog, subfamily C, member 1						144.0	150.0	148.0					10																	22055195		2203	4300	6503	SO:0001583	missense	64215			negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22055195G>C	AK026062	AK026062	CCDS7136.1	CCDS7136.1	10p11.23	2011-09-02			2011-09-02			ENSG00000136770	ENSG00000136770	ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	"""Heat shock proteins / DNAJ (HSP40)"""	20090	20090	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611207	611207								Standard	Standard	NM_022365	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	uc001irc.3	Q96KC8	Q96KC8	OTTHUMG00000017800	OTTHUMG00000017800	ENST00000376980.3:c.1142C>G	10.37:g.22055195G>C	ENSP00000366179:p.Ser381Cys		DNAJC1_ENST00000483085.1_5'UTR	p.S381C	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN			10	1432	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	381		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	c.1142C>G	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154020	0.78114	.	.	ENSG00000136770	ENST00000376980	T	0.29655	1.56	5.24	5.24	0.73138	5.24	5.24	0.73138	Homeodomain-like (1);	0.229461	0.43747	D	0.000523	T	0.45994	0.1370	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.993	P;P	0.55667	0.781;0.628	T	0.45498	-0.9257	10	0.87932	D	0	-0.2663	18.8415	0.92186	0.0:0.0:1.0:0.0	.	102;381	Q96NY3;Q96KC8	.;DNJC1_HUMAN	C	381	ENSP00000366179:S381C	ENSP00000366179:S381C	S	-	2	0	0	DNAJC1	22095201	22095201	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.055000	0.57441	2.447000	0.82792	0.591000	0.81541	TCC		0.353	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1		190.501277	57	57	154	154	NM_022365		56	190.501277	190.501277	56	0.500000	0	0	0	1	0	56	56	0.5
CHST9	83539	broad.mit.edu	37	18	24496802	24496802	+	Silent	SNP	G	G	A			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr18:24496802G>A	ENST00000284224.8	-	6	1030	c.753C>T	c.(751-753)taC>taT	p.Y251Y	AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Silent_p.Y251Y|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	251					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					AATGCTTCCCGTAGTGGACAG	0.423																																						ENST00000284224.8											0			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28						c.(751-753)taC>taT	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9						148.0	135.0	139.0					18																	24496802		1886	4111	5997	SO:0001819	synonymous_variant	83539			carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24496802G>A	AF239821	AF239821	CCDS42422.1, CCDS58618.1	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			2011-04-28			ENSG00000154080	ENSG00000154080	ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	"""Sulfotransferases, membrane-bound"""	19898	19898	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610191	610191						11139592, 11445554	11139592, 11445554	Standard	Standard	NM_031422	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	uc002kwe.4	Q7L1S5	Q7L1S5			ENST00000284224.8:c.753C>T	18.37:g.24496802G>A			CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Silent_p.Y251Y|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	p.Y251Y	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN			6	1030	-	all_lung(6;0.0145)|Ovarian(20;0.124)		251		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Silent	SNP	ENST00000284224.8	37	c.753C>T	CCDS42422.1																																																																																									0.423	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1		-11.039686	51	51	128	128	NM_031422		3	6.346951	6.346951	73	0.039474	0	0	0	1	0	3	73	0.039474
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		148.366306	26	26	137	137	NM_002072		45	148.58364	148.583640	55	0.450000	0	0	0	1	0	45	55	0.45
CDHR1	92211	broad.mit.edu	37	10	85956312	85956312	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr10:85956312C>T	ENST00000372117.3	+	3	306	c.203C>T	c.(202-204)tCc>tTc	p.S68F	CDHR1_ENST00000332904.3_Missense_Mutation_p.S68F	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	68	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GACCCCATCTCCTACCACATC	0.507																																						ENST00000372117.3											0			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(202-204)tCc>tTc	cadherin-related family member 1						145.0	124.0	131.0					10																	85956312		2203	4300	6503	SO:0001583	missense	92211			homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85956312C>T	AB053448	AB053448	CCDS7372.1, CCDS53548.1	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	"""Cadherins / Cadherin-related"""	14550	14550	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609502	609502	"""protocadherin 21"""	PCDH21	"""protocadherin 21"""	PCDH21		11597768	11597768	Standard	Standard	NM_001171971	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	uc001kcv.3	Q96JP9	Q96JP9	OTTHUMG00000018634	OTTHUMG00000018634	ENST00000372117.3:c.203C>T	10.37:g.85956312C>T	ENSP00000361189:p.Ser68Phe		CDHR1_ENST00000332904.3_Missense_Mutation_p.S68F	p.S68F	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			3	306	+			68	Cadherin 1.	Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.203C>T	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549780	0.65311	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.52057	0.68;0.68	5.57	5.57	0.84162	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.519821	0.19853	N	0.104587	T	0.61274	0.2334	L	0.49640	1.575	0.80722	D	1	D;D	0.57571	0.98;0.978	P;P	0.60682	0.807;0.878	T	0.54781	-0.8242	10	0.33141	T	0.24	-28.0597	18.3121	0.90204	0.0:1.0:0.0:0.0	.	68;68	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	F	68	ENSP00000331063:S68F;ENSP00000361189:S68F	ENSP00000331063:S68F	S	+	2	0	0	CDHR1	85946292	85946292	1.000000	0.71417	0.994000	0.49952	0.750000	0.42670	3.282000	0.51693	2.630000	0.89119	0.561000	0.74099	TCC		0.507	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1		90.275718	-9	-9	82	82	NM_033100		29	90.311166	90.311166	26	0.527273	0	0	0	1	0	29	26	0.527273
ZNF439	90594	broad.mit.edu	37	19	11978607	11978607	+	Silent	SNP	G	G	A	rs370512382		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr19:11978607G>A	ENST00000304030.2	+	3	923	c.723G>A	c.(721-723)ccG>ccA	p.P241P	ZNF439_ENST00000455282.1_Silent_p.P105P|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P241P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GAGAGAAACCGTATGAATGTA	0.363																																						ENST00000304030.2											1	Substitution - coding silent(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						c.(721-723)ccG>ccA	zinc finger protein 439	G		0,4406		0,0,2203	83.0	83.0	83.0		723	-1.1	0.0	19		83	1,8599		0,1,4299	no	coding-synonymous	ZNF439	NM_152262.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		241/500	11978607	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	90594			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978607G>A	AL833935	AL833935	CCDS12268.1	CCDS12268.1	19p13.13	2013-01-08			2013-01-08			ENSG00000171291	ENSG00000171291	ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	20873	20873	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_152262	NM_152262		Approved	DKFZp571K0837	uc002mss.3	uc002mss.3	Q8NDP4	Q8NDP4	OTTHUMG00000156527	OTTHUMG00000156527	ENST00000304030.2:c.723G>A	19.37:g.11978607G>A			ZNF439_ENST00000455282.1_Silent_p.P105P|ZNF439_ENST00000592534.1_Intron	p.P241P	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN			3	923	+			241		Q8IYZ7|Q96SU1	Silent	SNP	ENST00000304030.2	37	c.723G>A	CCDS12268.1																																																																																									0.363	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1		-14.883555	65	65	174	174			4	6.801264	6.801264	92	0.041667	0	0	0	1	0	4	92	0.041667
ZNF484	83744	broad.mit.edu	37	9	95608788	95608788	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr9:95608788A>C	ENST00000375495.3	-	5	2429	c.2281T>G	c.(2281-2283)Tca>Gca	p.S761A	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.S725A|ZNF484_ENST00000332591.6_Missense_Mutation_p.S725A|ZNF484_ENST00000395506.3_Missense_Mutation_p.S763A	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	761					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGGAGTTGTGATTTCTTAATG	0.393																																						ENST00000395505.2											0			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(2173-2175)Tca>Gca	zinc finger protein 484						130.0	130.0	130.0					9																	95608788		2203	4300	6503	SO:0001583	missense	83744			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95608788A>C	AK091203	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			2013-01-08			ENSG00000127081	ENSG00000127081	ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	23385	23385	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001007101	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	uc004asu.2	Q5JVG2	Q5JVG2	OTTHUMG00000020236	OTTHUMG00000020236	ENST00000375495.3:c.2281T>G	9.37:g.95608788A>C	ENSP00000364645:p.Ser761Ala		ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.S763A|ZNF484_ENST00000332591.6_Missense_Mutation_p.S725A|ZNF484_ENST00000375495.3_Missense_Mutation_p.S761A	p.S725A	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	2265	-			761		B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.2173T>G	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	13.44	2.237208	0.39498	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07327	3.2;4.77;4.77;3.2	2.65	1.47	0.22746	2.65	1.47	0.22746	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07638	0.0192	L	0.43646	1.37	0.09310	N	1	B;B	0.22800	0.075;0.075	B;B	0.17433	0.018;0.018	T	0.31052	-0.9957	9	0.48119	T	0.1	.	6.5244	0.22293	0.7846:0.0:0.0:0.2154	.	763;761	B4DRI2;Q5JVG2	.;ZN484_HUMAN	A	725;763;761;725	ENSP00000378881:S725A;ENSP00000378882:S763A;ENSP00000364645:S761A;ENSP00000364646:S725A	ENSP00000364646:S725A	S	-	1	0	0	ZNF484	94648609	94648609	0.000000	0.05858	0.995000	0.50966	0.990000	0.78478	-2.050000	0.01404	0.409000	0.25649	0.450000	0.29827	TCA		0.393	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2		125.674604	25	25	183	183	XM_046861		40	126.9799	126.979900	65	0.380952	0	0	0	1	0	40	65	0.380952
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625L(9)|p.R625P(2)|p.R625H(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	12	Substitution - Missense(12)	haematopoietic_and_lymphoid_tissue(8)|urinary_tract(1)|salivary_gland(1)|central_nervous_system(1)|skin(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)cGt>cAt	splicing factor 3b, subunit 1, 155kDa						95.0	92.0	93.0					2																	198267483		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267483C>T	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"""splicing factor 3b, subunit 1, 155kD"""		"""splicing factor 3b, subunit 1, 155kD"""			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His			p.R625H	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1965	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1874G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	0	SF3B1	197975728	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT		0.438	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		64.937226	42	42	96	96			22	65.586685	65.586685	35	0.385965	0	0	0	1	0	22	35	0.385965
TMOD2	29767	broad.mit.edu	37	15	52065948	52065948	+	Missense_Mutation	SNP	G	G	A	rs114844653	byFrequency	TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr15:52065948G>A	ENST00000249700.4	+	4	544	c.323G>A	c.(322-324)cGt>cAt	p.R108H	TMOD2_ENST00000539962.2_Missense_Mutation_p.R64H|TMOD2_ENST00000435126.2_Missense_Mutation_p.R108H	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	108					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		ATAGAAACTCGTAAAGAAGAA	0.408																																						ENST00000249700.4											0			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(322-324)cGt>cAt	tropomodulin 2 (neuronal)	G	HIS/ARG,HIS/ARG	0,4390		0,0,2195	104.0	103.0	104.0		323,323	-5.4	0.0	15	dbSNP_132	104	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense	TMOD2	NM_014548.3,NM_001142885.1	29,29	0,1,6487	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	108/352,108/316	52065948	1,12975	2195	4293	6488	SO:0001583	missense	29767			nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52065948G>A	AF177169	AF177169	CCDS10144.1, CCDS45260.1	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			2008-05-14			ENSG00000128872	ENSG00000128872	ENSG00000128872	ENSG00000128872				11872	11872	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602928	602928						10662549	10662549	Standard	Standard	NM_014548	NM_014548		Approved	NTMOD	uc002abk.3	uc002abk.3	Q9NZR1	Q9NZR1	OTTHUMG00000131805	OTTHUMG00000131805	ENST00000249700.4:c.323G>A	15.37:g.52065948G>A	ENSP00000249700:p.Arg108His		TMOD2_ENST00000435126.2_Missense_Mutation_p.R108H|TMOD2_ENST00000539962.2_Missense_Mutation_p.R64H	p.R108H	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	4	544	+			108		B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	c.323G>A	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	G	9.502	1.103365	0.20632	0.0	1.16E-4	ENSG00000128872	ENST00000435126;ENST00000249700;ENST00000539962	T;T;T	0.31247	1.5;1.5;1.5	5.36	-5.36	0.02689	5.36	-5.36	0.02689	.	0.337879	0.32518	N	0.005991	T	0.10078	0.0247	N	0.08118	0	0.21473	N	0.999674	B;B	0.10296	0.003;0.0	B;B	0.08055	0.003;0.003	T	0.06463	-1.0825	10	0.36615	T	0.2	3.3239	4.0375	0.09737	0.5078:0.1136:0.2861:0.0924	.	108;108	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	H	108;108;64	ENSP00000404590:R108H;ENSP00000249700:R108H;ENSP00000437743:R64H	ENSP00000249700:R108H	R	+	2	0	0	TMOD2	49853240	49853240	0.000000	0.05858	0.004000	0.12327	0.997000	0.91878	-0.646000	0.05403	-0.907000	0.03862	0.655000	0.94253	CGT		0.408	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2		143.905855	35	35	122	122			44	143.971482	143.971482	39	0.530120	0	0	0	1	0	44	39	0.53012
ADD1	118	broad.mit.edu	37	4	2877722	2877722	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr4:2877722G>C	ENST00000398129.1	+	1	100	c.80G>C	c.(79-81)cGa>cCa	p.R27P	ADD1_ENST00000503455.2_Missense_Mutation_p.R27P|ADD1_ENST00000264758.7_Missense_Mutation_p.R27P|ADD1_ENST00000513328.2_Missense_Mutation_p.R27P|ADD1_ENST00000398125.1_Missense_Mutation_p.R27P|ADD1_ENST00000355842.3_Missense_Mutation_p.R27P|ADD1_ENST00000446856.1_Missense_Mutation_p.R27P|ADD1_ENST00000398123.2_Missense_Mutation_p.R27P			P35611	ADDA_HUMAN	adducin 1 (alpha)	27					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TACTTCGACCGAGTAGATGAG	0.527																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	ENST00000355842.3											0			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22						c.(79-81)cGa>cCa	adducin 1 (alpha)						135.0	134.0	135.0					4																	2877722		2203	4300	6503	SO:0001583	missense	118			actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2877722G>C	L07261	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			2009-04-22			ENSG00000087274	ENSG00000087274	ENSG00000087274	ENSG00000087274				243	243	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			102680	102680						1840603	1840603	Standard	Standard	NM_001119	NM_001119		Approved		uc003gfq.3	uc003gfq.3	P35611	P35611	OTTHUMG00000122080	OTTHUMG00000122080	ENST00000398129.1:c.80G>C	4.37:g.2877722G>C	ENSP00000381197:p.Arg27Pro		ADD1_ENST00000503455.2_Missense_Mutation_p.R27P|ADD1_ENST00000398123.2_Missense_Mutation_p.R27P|ADD1_ENST00000264758.7_Missense_Mutation_p.R27P|ADD1_ENST00000398129.1_Missense_Mutation_p.R27P|ADD1_ENST00000513328.2_Missense_Mutation_p.R27P|ADD1_ENST00000446856.1_Missense_Mutation_p.R27P|ADD1_ENST00000398125.1_Missense_Mutation_p.R27P	p.R27P			P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	3	943	+			27		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	c.80G>C	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382494	0.82792	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000511797;ENST00000513328;ENST00000508277;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	4.99	4.99	0.66335	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.59998	0.2235	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.998;1.0;0.999	D;D;D;D;D;D;D	0.87578	0.996;0.996;0.998;0.996;0.995;0.998;0.983	T	0.65092	-0.6252	10	0.72032	D	0.01	-12.8883	18.4459	0.90683	0.0:0.0:1.0:0.0	.	27;27;27;27;27;27;27	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	P	27	ENSP00000264758:R27P;ENSP00000399828:R27P;ENSP00000381193:R27P;ENSP00000421918:R27P;ENSP00000421907:R27P;ENSP00000426700:R27P;ENSP00000423024:R27P;ENSP00000348100:R27P;ENSP00000381191:R27P;ENSP00000381197:R27P	ENSP00000264758:R27P	R	+	2	0	0	ADD1	2847520	2847520	1.000000	0.71417	0.979000	0.43373	0.571000	0.35966	7.529000	0.81952	2.597000	0.87782	0.591000	0.81541	CGA		0.527	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1		99.413678	24	24	106	106	NM_014189		31	99.905056	99.905056	44	0.413333	0	0	0	1	0	31	44	0.413333
GP2	2813	broad.mit.edu	37	16	20331019	20331019	+	Silent	SNP	G	G	T			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr16:20331019G>T	ENST00000381362.4	-	7	1015	c.939C>A	c.(937-939)atC>atA	p.I313I	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Silent_p.I163I|GP2_ENST00000381360.5_Silent_p.I166I|GP2_ENST00000302555.5_Silent_p.I310I	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	313	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGATGTTGAGGATGGTGTCTC	0.448																																						ENST00000302555.5											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(928-930)atC>atA	glycoprotein 2 (zymogen granule membrane)						410.0	377.0	388.0					16																	20331019		2203	4300	6503	SO:0001819	synonymous_variant	2813				anchored to membrane|extracellular region|plasma membrane		g.chr16:20331019G>T	U36221	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			2008-02-05			ENSG00000169347	ENSG00000169347	ENSG00000169347	ENSG00000169347				4441	4441	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602977	602977						9605860	9605860	Standard	Standard	XM_005255259	XM_005255259		Approved		uc002dgw.3	uc002dgw.3	P55259	P55259	OTTHUMG00000131489	OTTHUMG00000131489	ENST00000381362.4:c.939C>A	16.37:g.20331019G>T			GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Silent_p.I163I|GP2_ENST00000381360.5_Silent_p.I166I|GP2_ENST00000381362.4_Silent_p.I313I	p.I310I			P55259	GP2_HUMAN			6	1079	-			313	ZP.	A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	c.930C>A	CCDS42128.1																																																																																									0.448	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1		245.667650	63	63	224	224	NM_016295		82	245.703119	245.703119	77	0.515723	1	0	1.5608e-48	1	1.80724e-48	82	77	0.515723
GSG2	83903	broad.mit.edu	37	17	3628701	3628701	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr17:3628701G>C	ENST00000325418.4	+	1	1491	c.1472G>C	c.(1471-1473)gGg>gCg	p.G491A	ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	491	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GAGAAGATTGGGGAAGGGGTG	0.458																																						ENST00000325418.4											0										c.(1471-1473)gGg>gCg	germ cell associated 2 (haspin)						58.0	56.0	57.0					17																	3628701		2203	4300	6503	SO:0001583	missense	83903			cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628701G>C	AB039834	AB039834	CCDS11036.1	CCDS11036.1	17p13	2005-01-19			2005-01-19			ENSG00000177602	ENSG00000177602	ENSG00000177602	ENSG00000177602				19682	19682	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609240	609240								Standard	Standard	NM_031965	NM_031965		Approved	haspin	uc002fwp.3	uc002fwp.3	Q8TF76	Q8TF76	OTTHUMG00000090703	OTTHUMG00000090703	ENST00000325418.4:c.1472G>C	17.37:g.3628701G>C	ENSP00000325290:p.Gly491Ala		ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	p.G491A	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1491	+			491	Protein kinase.	Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.1472G>C	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550657	0.65311	.	.	ENSG00000177602	ENST00000325418	D	0.82081	-1.57	4.87	4.87	0.63330	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000055	D	0.90741	0.7094	M	0.78801	2.425	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.91719	0.5387	10	0.87932	D	0	-25.2746	16.0321	0.80585	0.0:0.0:1.0:0.0	.	491	Q8TF76	HASP_HUMAN	A	491	ENSP00000325290:G491A	ENSP00000325290:G491A	G	+	2	0	0	GSG2	3575450	3575450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.123000	0.77176	2.648000	0.89879	0.655000	0.94253	GGG		0.458	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1		80.205254	36	36	100	100	NM_031965		27	80.920405	80.920405	42	0.391304	0	0	0	1	0	27	42	0.391304
ADAMTS10	81794	broad.mit.edu	37	19	8656924	8656924	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr19:8656924C>A	ENST00000597188.1	-	14	1921	c.1651G>T	c.(1651-1653)Ggg>Tgg	p.G551W	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.G551W|ADAMTS10_ENST00000595838.1_Silent_p.G41G	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	551	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GTCCACGGCCCCCAGGCTCCG	0.687																																						ENST00000270328.4											0			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(1651-1653)Ggg>Tgg	ADAM metallopeptidase with thrombospondin type 1 motif, 10						23.0	26.0	25.0					19																	8656924		2203	4297	6500	SO:0001583	missense	81794			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8656924C>A	AF163762	AF163762	CCDS12206.1, CCDS62529.1	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303	ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	13201	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608990	608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""		"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""					Standard	Standard	XM_005272499	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	uc002mkj.1	Q9H324	Q9H324	OTTHUMG00000182216	OTTHUMG00000182216	ENST00000597188.1:c.1651G>T	19.37:g.8656924C>A	ENSP00000471851:p.Gly551Trp		ADAMTS10_ENST00000597188.1_Missense_Mutation_p.G551W|ADAMTS10_ENST00000595838.1_Silent_p.G41G	p.G551W			Q9H324	ATS10_HUMAN			13	1917	-			551	TSP type-1 1.	M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.1651G>T	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772685	0.69992	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.55760	0.5	4.63	4.63	0.57726	4.63	4.63	0.57726	.	0.222827	0.38217	N	0.001773	D	0.82291	0.5005	H	0.97491	4.015	0.80722	D	1	P;D	0.71674	0.956;0.998	P;D	0.87578	0.754;0.998	D	0.89347	0.3658	10	0.87932	D	0	.	16.4707	0.84111	0.0:1.0:0.0:0.0	.	305;551	Q59FE5;Q9H324	.;ATS10_HUMAN	W	551;305	ENSP00000270328:G551W	ENSP00000270328:G551W	G	-	1	0	0	ADAMTS10	8562924	8562924	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	5.461000	0.66699	2.122000	0.65172	0.467000	0.42956	GGG		0.687	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3		6.950823	10	10	64	64	NM_030957		5	11.962136	11.962136	33	0.131579	1	0	0.0293803	1	0.0307794	5	33	0.131579
BTN2A1	11120	broad.mit.edu	37	6	26458919	26458919	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr6:26458919C>A	ENST00000312541.5	+	2	303	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000429381.1_Missense_Mutation_p.L19I|BTN2A1_ENST00000469185.1_Missense_Mutation_p.L19I	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	19					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CCTCCTCCTCCTCCTCAGCCT	0.582																																						ENST00000429381.1											0			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(55-57)Ctc>Atc	butyrophilin, subfamily 2, member A1						157.0	121.0	134.0					6																	26458919		2203	4300	6503	SO:0001583	missense	11120			lipid metabolic process	integral to plasma membrane		g.chr6:26458919C>A	U90543	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			2014-01-14			ENSG00000112763	ENSG00000112763	ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	1136	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613590	613590						9382921, 9149941	9382921, 9149941	Standard	Standard	NM_007049	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	uc003nib.2	Q7KYR7	Q7KYR7	OTTHUMG00000014457	OTTHUMG00000014457	ENST00000312541.5:c.55C>A	6.37:g.26458919C>A	ENSP00000312158:p.Leu19Ile		BTN2A1_ENST00000312541.5_Missense_Mutation_p.L19I|BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000469185.1_Missense_Mutation_p.L19I	p.L19I			Q7KYR7	BT2A1_HUMAN			2	267	+			19		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.55C>A	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066627	0.36470	.	.	ENSG00000112763	ENST00000312541;ENST00000429381;ENST00000265424;ENST00000469185	T;T;T	0.80033	-0.63;-1.33;-1.33	3.03	-6.06	0.02165	3.03	-6.06	0.02165	Immunoglobulin-like (1);	2.830930	0.01625	N	0.023249	T	0.60945	0.2308	M	0.73319	2.225	0.09310	N	0.999997	D;P	0.54397	0.966;0.908	P;B	0.46144	0.505;0.277	T	0.64512	-0.6390	10	0.45353	T	0.12	.	0.458	0.00512	0.3696:0.2048:0.1227:0.3029	.	19;19	Q96AV7;Q7KYR7	.;BT2A1_HUMAN	I	19	ENSP00000312158:L19I;ENSP00000416945:L19I;ENSP00000419043:L19I	ENSP00000265424:L19I	L	+	1	0	0	BTN2A1	26566898	26566898	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.335000	0.02662	-1.982000	0.00988	-0.516000	0.04426	CTC		0.582	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2		-15.591623	11	11	89	89	NM_007049		4	7.786387	7.786387	98	0.039216	1	0	1	1	1	4	98	0.039216
CSMD3	114788	broad.mit.edu	37	8	113702197	113702197	+	Silent	SNP	A	A	T			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr8:113702197A>T	ENST00000297405.5	-	14	2299	c.2055T>A	c.(2053-2055)gtT>gtA	p.V685V	CSMD3_ENST00000343508.3_Silent_p.V645V|CSMD3_ENST00000455883.2_Silent_p.V581V|CSMD3_ENST00000352409.3_Silent_p.V685V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	685	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAACCTTAAAACATCACGAT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5											0			breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2053-2055)gtT>gtA	CUB and Sushi multiple domains 3						168.0	174.0	172.0					8																	113702197		2203	4300	6503	SO:0001819	synonymous_variant	114788				integral to membrane|plasma membrane		g.chr8:113702197A>T	AY210419	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			2007-01-06			ENSG00000164796	ENSG00000164796	ENSG00000164796	ENSG00000164796				19291	19291	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608399	608399								Standard	Standard	NM_052900	NM_052900		Approved		uc003ynu.3	uc003ynu.3	Q7Z407	Q7Z407	OTTHUMG00000157027	OTTHUMG00000157027	ENST00000297405.5:c.2055T>A	8.37:g.113702197A>T			CSMD3_ENST00000455883.2_Silent_p.V581V|CSMD3_ENST00000343508.3_Silent_p.V645V|CSMD3_ENST00000352409.3_Silent_p.V685V	p.V685V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			14	2299	-			685	Sushi 3.	Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.2055T>A	CCDS6315.1																																																																																									0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		171.639867	99	99	289	289	NM_052900		66	183.234859	183.234859	178	0.270492	0	0	0	1	0	66	178	0.270492
CENPE	1062	broad.mit.edu	37	4	104062907	104062907	+	Splice_Site	SNP	C	C	G			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr4:104062907C>G	ENST00000265148.3	-	35	5552	c.5463G>C	c.(5461-5463)aaG>aaC	p.K1821N	CENPE_ENST00000380026.3_Splice_Site_p.K1796N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1821					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATAAAAATACCTTTTCTTGTA	0.313																																						ENST00000265148.3											0			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(5461-5463)aaG>aaC	centromere protein E, 312kDa						67.0	64.0	65.0					4																	104062907		2202	4298	6500	SO:0001630	splice_region_variant	1062			blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104062907C>G	Z15005	Z15005	CCDS34042.1, CCDS68768.1	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29		2013-11-05	2002-08-29			ENSG00000138778		ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	1856	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	"""protein phosphatase 1, regulatory subunit 61"""	117143	117143	"""centromere protein E (312kD)"""		"""centromere protein E (312kD)"""			7851898	7851898	Standard	Standard	NM_001286734	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	uc003hxb.1	Q02224	Q02224			ENST00000265148.3:c.5463+1G>C	4.37:g.104062907C>G			CENPE_ENST00000380026.3_Splice_Site_p.K1796N	p.K1821N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	35	5552	-			1821		A6NKY9|A8K2U7|Q4LE75	Splice_Site	SNP	ENST00000265148.3	37	c.5463G>C	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902313	0.52227	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.71341	-0.56;-0.56	4.01	4.01	0.46588	4.01	4.01	0.46588	.	.	.	.	.	D	0.82323	0.5012	M	0.78801	2.425	0.36445	D	0.865731	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.94	D	0.85866	0.1413	8	.	.	.	.	11.5291	0.50597	0.0:1.0:0.0:0.0	.	1796;1821	Q02224-3;Q02224	.;CENPE_HUMAN	N	1821;1821;1796	ENSP00000265148:K1821N;ENSP00000369365:K1796N	.	K	-	3	2	2	CENPE	104282356	104282356	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.531000	0.53546	2.069000	0.61940	0.643000	0.83706	AAG		0.313	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			27.976926	43	43	91	91		Missense_Mutation	9	28.107919	28.107919	6	0.600000	0	0	0	1	0	9	6	0.6
C20orf96	140680	broad.mit.edu	37	20	258020	258021	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr20:258020_258021delAA	ENST00000360321.2	-	7	707_708	c.569_570delTT	c.(568-570)cttfs	p.L190fs	C20orf96_ENST00000400269.3_Frame_Shift_Del_p.L132fs|C20orf96_ENST00000382369.5_Frame_Shift_Del_p.L155fs	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	190										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCTGCTGCTCAAGATCTGGGGA	0.574																																						ENST00000360321.2											0			endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(568-570)cttfs	chromosome 20 open reading frame 96																																			SO:0001589	frameshift_variant	140680						g.chr20:258020_258021delAA	AL034548	AL034548	CCDS12994.1, CCDS74685.1	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			2012-10-30			ENSG00000196476	ENSG00000196476	ENSG00000196476	ENSG00000196476				16227	16227	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_153269	NM_153269		Approved	dJ1103G7.2	uc002wde.2	uc002wde.2	Q9NUD7	Q9NUD7	OTTHUMG00000031626	OTTHUMG00000031626	ENST00000360321.2:c.569_570delTT	20.37:g.258020_258021delAA	ENSP00000353470:p.Leu190fs		C20orf96_ENST00000382369.5_Frame_Shift_Del_p.L155fs|C20orf96_ENST00000400269.3_Frame_Shift_Del_p.L132fs	p.L190fs	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		7	707_708	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	190		A3KPE0|B2RPH9|Q8N840|Q8NAX5	Frame_Shift_Del	DEL	ENST00000360321.2	37	c.569_570delTT	CCDS12994.1																																																																																									0.574	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	.	.	68	68	244	244	NM_153269		91			115	0.44						91	115	0.44
KMT2D	8085	broad.mit.edu	37	12	49427665	49427667	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr12:49427665_49427667delTGC	ENST00000301067.7	-	39	10820_10822	c.10821_10823delGCA	c.(10819-10824)cagcaa>caa	p.3607_3608QQ>Q	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3607	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3337Q(1)|p.Q3607Q(1)									ttgctgttgttgctgctgctgct	0.586																																						ENST00000301067.7											2	Substitution - coding silent(2)	large_intestine(2)								c.(10819-10824)cagcaa>caa	lysine (K)-specific methyltransferase 2D																																			SO:0001651	inframe_deletion	8085						g.chr12:49427665_49427667delTGC	AF010403	AF010403	CCDS44873.1	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	7133	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602113	602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	9247308	Standard	Standard	NM_003482	NM_003482		Approved	ALR, MLL4, CAGL114			O14686	O14686	OTTHUMG00000166524	OTTHUMG00000166524	ENST00000301067.7:c.10821_10823delGCA	12.37:g.49427674_49427676delTGC	ENSP00000301067:p.Gln3612del			p.3607_3608QQ>Q	NM_003482.3	NP_003473.3					39	10820_10822	-					O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.10821_10823delGCA	CCDS44873.1																																																																																									0.586	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	.	.	3	3	9	9			2			4	0.33						2	4	0.33
OVCA2	124641	broad.mit.edu	37	17	1945490	1945491	+	Frame_Shift_Ins	INS	-	-	C	rs199650013|rs201458913		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr17:1945490_1945491insC	ENST00000572195.1	+	1	164_165	c.149_150insC	c.(148-153)gaccccfs	p.DP50fs	DPH1_ENST00000570477.1_Intron|RP11-667K14.4_ENST00000572404.1_RNA|RP11-667K14.3_ENST00000572790.1_lincRNA|DPH1_ENST00000263083.6_Intron	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	50					metabolic process (GO:0008152)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)										CCGGTCCCCGACCCCCCGGGCC	0.703											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000572195.1											0										c.(148-153)gaccccfs	ovarian tumor suppressor candidate 2																																			SO:0001589	frameshift_variant	124641			response to retinoic acid	cytoplasm	hydrolase activity	g.chr17:1945490_1945491insC	AF321875	AF321875	CCDS11015.1	CCDS11015.1	17p13.3	2012-10-08			2012-10-08			ENSG00000262664	ENSG00000262664	ENSG00000262664	ENSG00000262664				24203	24203	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""candidate tumor suppressor in ovarian cancer 2"""	"""candidate tumor suppressor in ovarian cancer 2"""	607896	607896						11979432, 8616839, 16368187	11979432, 8616839, 16368187	Standard	Standard	NM_080822	NM_080822		Approved		uc002ftx.3	uc002ftx.3	Q8WZ82	Q8WZ82	OTTHUMG00000132471	OTTHUMG00000132471	ENST00000572195.1:c.155dupC	17.37:g.1945496_1945496dupC	ENSP00000461388:p.Asp50fs	599	DPH1_ENST00000570477.1_Intron|DPH1_ENST00000263083.6_Intron	p.DP50fs	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN			1	164_165	+			50		Q86XN3|Q8IW87|Q9UCX9	Frame_Shift_Ins	INS	ENST00000572195.1	37	c.149_150insC	CCDS11015.1																																																																																									0.703	OVCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255636.5	.	.	-8	-8	4	4	NM_080822		2			4	0.33						2	4	0.33
TECPR1	25851	broad.mit.edu	37	7	97858474	97858474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr7:97858474delA	ENST00000447648.2	-	16	2586	c.2287delT	c.(2287-2289)tggfs	p.W763fs	TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000379795.3_Frame_Shift_Del_p.W764fs|TECPR1_ENST00000542604.1_Frame_Shift_Del_p.W693fs			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	763					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATCTGCCGCCAAAACCTGGAA	0.642																																						ENST00000447648.2											0			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2287-2289)tggfs	tectonin beta-propeller repeat containing 1						18.0	23.0	21.0					7																	97858474		1922	4094	6016	SO:0001589	frameshift_variant	25851				integral to membrane	protein binding	g.chr7:97858474delA			CCDS47648.1	CCDS47648.1	7q21.3	2009-01-30			2009-01-30			ENSG00000205356	ENSG00000205356	ENSG00000205356	ENSG00000205356				22214	22214	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614781	614781								Standard	Standard	NM_015395	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	uc003upg.4	Q7Z6L1	Q7Z6L1	OTTHUMG00000154273	OTTHUMG00000154273	ENST00000447648.2:c.2287delT	7.37:g.97858474delA	ENSP00000404923:p.Trp763fs		TECPR1_ENST00000379795.3_Frame_Shift_Del_p.W764fs|TECPR1_ENST00000542604.1_Frame_Shift_Del_p.W693fs	p.W763fs			Q7Z6L1	TCPR1_HUMAN			16	2586	-			763		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Frame_Shift_Del	DEL	ENST00000447648.2	37	c.2287delT	CCDS47648.1																																																																																									0.642	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	.	.	-2	-2	5	5	NM_015395		2			4	0.33						2	4	0.33
